Familial angiokeratoma corporis diffusum without identified enzyme defect.
Indian J Dermatol Venereol Leprol
;
2015 Jan-Fer ; 81 (1): 46-49
Article
in English
| IMSEAR
| ID: sea-155005
ABSTRACT
Angiokeratoma corporis diffusum is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins, most notably Fabry disease. These defects result in many systemic manifestations. Here, we report a rare familial case of angiokeratoma corporis diffusum that developed at puberty with no major systemic manifestations and no underlying enzyme defect or gene mutation. Familial angiokeratoma corporis diffusum without identified enzyme defect appears to be a distinct clinical entity with a benign course.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Taiwan
/
Female
/
Humans
/
Family
/
Puberty
/
Fabry Disease
/
Adult
Type of study:
Prognostic study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Dermatol Venereol Leprol
Year:
2015
Type:
Article
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